Longitudinal Study of Cognition With Niemann-Pick Disease, Type C (NPC)
Niemann-Pick Disease, Type C (NPC) is a rare neurodegenerative disorder with a wide clinical spectrum and variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia (an inability to coordinate balance, gait, extremity and eye movements), dysarthria (difficulty speaking), seizures, vertical gaze palsy (ability to move eyes in the same direction) motor impairment, dysphagia (trouble swallowing), psychotic episodes, and progressive dementia. There is no curative treatment for NPC and it is a lethal disorder. The purpose of this protocol is to obtain both baseline and rate of progression data on a clinical and biochemical markers that may later be used as outcome measures in a clinical trial. Specifically, this study will examine and characterize the longitudinal progression of neurocognitive symptoms of NPC with the goal of identifying early markers of disease progression that may be utilized in later trials to evaluate treatment efficacy.
Niemann-Pick Disease, Type C
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Longitudinal Study of Cognition With Niemann-Pick Disease, Type C|
- Composite score of neurocognitive measures [ Time Frame: Baseline and at yearly intervals for five years ] [ Designated as safety issue: No ]The composite score of neurocognitive measures will be calculated as follows: raw scores of neurocognitive tests will be transformed to Z-scores on normative data to allow comparison across measures administered at different ages. A score will be generated for each of the following domains: Intellectual Ability,Visual-Spatial Skills, Rote Verbal Memory, Narrative Verbal Memory, Visual-Spatial Construction, Nonverbal Working Memory, Language, Fine Motor, Attention, Executive Functioning, and Adaptive Behavior. Behavioral and emotional difficulties will be rated in terms of presence or absence of symptoms above a clinical cutoff score.
|Study Start Date:||March 2011|
|Estimated Study Completion Date:||April 2015|
|Estimated Primary Completion Date:||April 2015 (Final data collection date for primary outcome measure)|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Marc Patterson, MD 507-284-3351 email@example.com|
|Principal Investigator: Marc Patterson, MD|
|Sub-Investigator: Tanya M Brown, Ph.D.,LP|
|Principal Investigator:||Marc Patterson, MD||Mayo Clinic|